Characteristics of Krabbe disease in adults

Written on Monday 24 November 2014

Krabbe disease is a leukodystrophy where the severe form usually begins in early infancy, during the first year of life, and progresses rapidly. It causes demyelination of the central and peripheral nervous systems.

The aim of this study was to describe the clinical, radiological and genetic characteristics of Krabbe disease in adult patients for whom the diagnosis was established after age 16.
The patients were divided into three groups depending on the age of appearance of their symptoms:

  • In childhood (7 patients)
  • During adolescence (6 patients)
  • At the adult age (28 patients)

Ninety six percent of the patients in the adult onset group show signs of pyramidal tract dysfunction, i.e. dysfunction of the bundle of nerve fibres leading from the brain towards the spinal cord that control voluntary motor function. Slight paralysis of the inferior members (paraparesis) or of the four members (tetraparesis) accompanied by muscular rigidity became prominent in all the sick adults. A peripheral neuropathy was evidenced in 59% of cases of this group, which was most often demyelinating. Other clinical signs were also observed, such as:

  • impaired speech (dysarthria): 31%
  • perturbation in carrying out voluntary movements (cerebellar ataxia): 27%
  • over-pronounced curvature of the foot arches (pes cavus): 27%
  • deep sensory signs: 23%
  • tongue atrophy: 15%
  • visual problems due to optic nerve impairment (optic neuropathy): 12%
  • a drop in intellectual functions: 12%

Cerebrospinal fluid protein concentration was moderately increased in 54% of patients.

The “Adolescent” and “Childhood” groups had similar symptoms, but were more likely to show optic neuropathy and cerebellar ataxia. Apart from two patients, in the adult group the disease progressed slowly over more than 10 years.
The abnormalities observed by brain MRI were similar in the three groups.
No relationship could be clearly established between genetic mutations in these patients and their clinical signs.

Disease: Krabbe disease
Experimental model: 41 adult patients
Study type: Clinical study
Laboratory: Dr Frédéric Sedel, Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France.

Source : R. Debs, R. Froissart, P. Aubourg, C. Papeix, C. Douillard, B. Degos, B. Fontaine, B. Audoin, A. Lacour, G. Said, M.T. Vanier, F. Sedel. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J. Inherit. Metab. Dis. 2013, 36(5):859-68.

Scientific information provided in collaboration with the INIST-CNRS Institute, Institute for Scientific and Technical Information